Linked Data
dbSNP Id:
rs1348758057
gnomAD v2:
18-43319380-GGGACCA-G
gnomAD v3:
18-45739415-GGGACCA-G
gnomAD v4:
18-45739415-GGGACCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45739416_45739421del , CM000680.2:g.45739416_45739421del | GRCh38 |
| NC_000018.9:g.43319381_43319386del , CM000680.1:g.43319381_43319386del | GRCh37 |
| NC_000018.8:g.41573379_41573384del | NCBI36 |
| NG_011775.3:g.20290_20295del | |
| NG_011775.4:g.57392_57397del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321925.9:c.811+106_812-107del MANE Select | ENSP00000318546.4:n.811+106_812-107del | |
| ENST00000502059.7:c.*164+106_*165-107del | ENSP00000442180.2:n.*164+106_*165-107del | |
| ENST00000586951.6:c.811+106_812-107del | ENSP00000465702.2:n.811+106_812-107del | |
| ENST00000588179.6:c.*141+106_*142-107del | ENSP00000467898.2:n.*141+106_*142-107del | |
| ENST00000589322.7:c.415+106_416-107del | ENSP00000466273.3:n.415+106_416-107del | |
| ENST00000321925.8:c.811+106_812-107del | ENSP00000318546.4:n.811+106_812-107del | |
| ENST00000402943.6:c.496+106_497-107del | ENSP00000385320.2:n.496+106_497-107del | |
| ENST00000415427.7:c.979+106_980-107del | ENSP00000412309.2:n.979+106_980-107del | |
| ENST00000436407.7:c.979+106_980-107del | ENSP00000390637.2:n.979+106_980-107del | |
| ENST00000502059.6:c.487+106_488-107del | ENSP00000442180.1:n.487+106_488-107del | |
| ENST00000535474.5:c.415+106_416-107del | ENSP00000441998.1:n.415+106_416-107del | |
| ENST00000586142.5:c.811+106_812-107del | ENSP00000470476.1:n.811+106_812-107del | |
| ENST00000586854.1:n.244+106_245-107del | ||
| ENST00000588179.5:c.*141+106_*142-107del | ENSP00000467898.2:n.*141+106_*142-107del | |
| ENST00000589322.6:c.415+106_416-107del | ENSP00000466273.2:n.415+106_416-107del | |
| ENST00000589700.5:c.664-112_664-107del | ENSP00000465044.1:n.664-112_664-107del | |
| ENST00000590377.1:c.386+2768_386+2773del | ||
| ENST00000619403.4:c.664-112_664-107del | ENSP00000479595.1:n.664-112_664-107del | |
| NM_001128588.3:c.979+106_980-107del | NP_001122060.3:n.979+106_980-107del | |
| NM_001146036.2:c.811+106_812-107del | NP_001139508.2:n.811+106_812-107del | |
| NM_001146037.1:c.979+106_980-107del | NP_001139509.1:n.979+106_980-107del | |
| NM_001308278.1:c.496+106_497-107del | NP_001295207.1:n.496+106_497-107del | |
| NM_001308279.1:c.415+106_416-107del | NP_001295208.1:n.415+106_416-107del | |
| NM_015865.6:c.811+106_812-107del | NP_056949.4:n.811+106_812-107del | |
| XM_005258329.1:c.979+106_980-107del | XP_005258386.1:n.979+106_980-107del | |
| XM_005258333.1:c.415+106_416-107del | XP_005258390.1:n.415+106_416-107del | |
| XM_006722526.2:c.916+106_917-107del | XP_006722589.1:n.916+106_917-107del | |
| XM_011526141.1:c.916+106_917-107del | XP_011524443.1:n.916+106_917-107del | |
| XM_011526142.1:c.916+106_917-107del | XP_011524444.1:n.916+106_917-107del | |
| XM_011526143.1:c.979+106_980-107del | XP_011524445.1:n.979+106_980-107del | |
| XM_011526144.1:c.979+106_980-107del | XP_011524446.1:n.979+106_980-107del | |
| XR_935425.1:n.680-1827_680-1822del | ||
| NM_015865.7:c.811+106_812-107del MANE Select | NP_056949.4:n.811+106_812-107del | |
| XM_006722526.3:c.916+106_917-107del | XP_006722589.1:n.916+106_917-107del | |
| XM_024451238.1:c.811+106_812-107del | XP_024307006.1:n.811+106_812-107del | |
| XR_001753266.1:n.1177+106_1178-107del | ||
| XR_001753561.1:n.529-1827_529-1822del | ||
| XR_935423.2:n.698-1827_698-1822del | ||
| NM_001128588.4:c.979+106_980-107del | NP_001122060.3:n.979+106_980-107del | |
| NM_001146036.3:c.811+106_812-107del | NP_001139508.2:n.811+106_812-107del | |
| NM_001308278.2:c.496+106_497-107del | NP_001295207.1:n.496+106_497-107del | |
| NM_001308279.2:c.415+106_416-107del | NP_001295208.1:n.415+106_416-107del |